Incidental Mutation 'V7582:Fcgr1'
ID |
152592 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Fcgr1
|
Ensembl Gene |
ENSMUSG00000015947 |
Gene Name |
Fc receptor, IgG, high affinity I |
Synonyms |
CD64, FcgammaRI |
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.177)
|
Stock # |
V7582 ()
of strain
stinger
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
3 |
Chromosomal Location |
96190225-96201285 bp(-) (GRCm39) |
Type of Mutation |
makesense |
DNA Base Change (assembly) |
T to C
at 96191592 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Stop codon to Tryptophan
at position 405
(*405W)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000029748
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000029748]
|
AlphaFold |
P26151 |
Predicted Effect |
probably null
Transcript: ENSMUST00000029748
AA Change: *405W
|
SMART Domains |
Protein: ENSMUSP00000029748 Gene: ENSMUSG00000015947 AA Change: *405W
Domain | Start | End | E-Value | Type |
signal peptide
|
1 |
24 |
N/A |
INTRINSIC |
IG
|
38 |
111 |
1.8e-5 |
SMART |
IGc2
|
125 |
184 |
6.11e-8 |
SMART |
IG
|
206 |
290 |
7.3e-6 |
SMART |
transmembrane domain
|
298 |
320 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000200420
|
Meta Mutation Damage Score |
0.9755 |
Coding Region Coverage |
- 1x: 99.0%
- 3x: 98.1%
- 10x: 95.7%
- 20x: 90.3%
|
Validation Efficiency |
|
MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a protein that plays an important role in the immune response. This protein is a high-affinity Fc-gamma receptor. The gene is one of three related gene family members located on chromosome 1. [provided by RefSeq, Jul 2008] PHENOTYPE: Homozygous mutation of this gene results immune response defects including a decreased inflammatory response. [provided by MGI curators]
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 35 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
9530002B09Rik |
A |
T |
4: 122,595,050 (GRCm39) |
H102L |
possibly damaging |
Het |
Ahcy |
G |
A |
2: 154,906,841 (GRCm39) |
R151* |
probably null |
Het |
Atp6v1h |
A |
G |
1: 5,194,666 (GRCm39) |
T282A |
possibly damaging |
Het |
Cdc42bpb |
C |
T |
12: 111,262,825 (GRCm39) |
G1501S |
probably benign |
Het |
Dnajc22 |
T |
A |
15: 98,999,363 (GRCm39) |
Y183N |
probably damaging |
Het |
Dpyd |
C |
T |
3: 118,690,775 (GRCm39) |
Q295* |
probably null |
Het |
Dync2i1 |
A |
C |
12: 116,175,460 (GRCm39) |
S906A |
possibly damaging |
Het |
Erv3 |
T |
C |
2: 131,697,846 (GRCm39) |
H171R |
possibly damaging |
Het |
Fam221b |
T |
C |
4: 43,665,865 (GRCm39) |
T249A |
probably benign |
Het |
Fbrsl1 |
C |
T |
5: 110,527,292 (GRCm39) |
A129T |
possibly damaging |
Het |
Gm4787 |
G |
A |
12: 81,424,341 (GRCm39) |
Q606* |
probably null |
Het |
Hira |
G |
A |
16: 18,713,571 (GRCm39) |
A29T |
probably damaging |
Het |
Izumo4 |
A |
T |
10: 80,539,725 (GRCm39) |
T155S |
probably benign |
Het |
Kcnb2 |
A |
G |
1: 15,780,315 (GRCm39) |
I396V |
probably benign |
Het |
Lpar5 |
C |
A |
6: 125,058,690 (GRCm39) |
A137E |
possibly damaging |
Het |
Lrp4 |
C |
T |
2: 91,318,863 (GRCm39) |
S900L |
possibly damaging |
Het |
Med20 |
G |
A |
17: 47,929,757 (GRCm39) |
V65M |
probably damaging |
Het |
Myrfl |
T |
C |
10: 116,697,435 (GRCm39) |
T30A |
probably damaging |
Het |
Or10j7 |
G |
T |
1: 173,011,531 (GRCm39) |
L157I |
probably benign |
Het |
Otop3 |
T |
A |
11: 115,235,664 (GRCm39) |
L432Q |
probably damaging |
Het |
Papln |
C |
T |
12: 83,825,608 (GRCm39) |
R608C |
possibly damaging |
Het |
Pelp1 |
T |
A |
11: 70,288,976 (GRCm39) |
T257S |
probably damaging |
Het |
Pik3cd |
A |
C |
4: 149,741,776 (GRCm39) |
L390R |
probably damaging |
Het |
Plekhb1 |
T |
C |
7: 100,303,825 (GRCm39) |
T112A |
probably benign |
Het |
Rbbp8nl |
T |
A |
2: 179,920,001 (GRCm39) |
T558S |
probably benign |
Het |
Rundc3b |
TGCCGCCGCCGCCGCCGCCGCCGCCGC |
TGCCGCCGCCGCCGCCGCCGCCGC |
5: 8,672,549 (GRCm39) |
|
probably benign |
Het |
Slc30a4 |
T |
A |
2: 122,531,458 (GRCm39) |
M136L |
probably benign |
Het |
Spaca1 |
T |
C |
4: 34,039,311 (GRCm39) |
E192G |
probably damaging |
Het |
Thbd |
A |
T |
2: 148,249,110 (GRCm39) |
Y253N |
probably benign |
Het |
Tiam1 |
C |
T |
16: 89,662,159 (GRCm39) |
R653H |
probably damaging |
Het |
Tnrc6c |
G |
A |
11: 117,614,152 (GRCm39) |
R770H |
probably damaging |
Het |
Toe1 |
A |
T |
4: 116,663,308 (GRCm39) |
N56K |
probably damaging |
Het |
Tprkb |
A |
G |
6: 85,905,764 (GRCm39) |
K150E |
probably damaging |
Het |
Zfp292 |
C |
T |
4: 34,806,783 (GRCm39) |
C2087Y |
possibly damaging |
Het |
Zfp933 |
G |
A |
4: 147,910,927 (GRCm39) |
A223V |
probably damaging |
Het |
|
Other mutations in Fcgr1 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL01490:Fcgr1
|
APN |
3 |
96,191,686 (GRCm39) |
missense |
probably benign |
0.01 |
IGL02142:Fcgr1
|
APN |
3 |
96,191,893 (GRCm39) |
missense |
probably benign |
0.41 |
IGL03086:Fcgr1
|
APN |
3 |
96,191,814 (GRCm39) |
nonsense |
probably null |
|
F5770:Fcgr1
|
UTSW |
3 |
96,191,592 (GRCm39) |
makesense |
probably null |
|
FR4737:Fcgr1
|
UTSW |
3 |
96,194,410 (GRCm39) |
missense |
probably benign |
0.01 |
FR4737:Fcgr1
|
UTSW |
3 |
96,191,820 (GRCm39) |
frame shift |
probably null |
|
R0323:Fcgr1
|
UTSW |
3 |
96,193,145 (GRCm39) |
missense |
possibly damaging |
0.84 |
R0594:Fcgr1
|
UTSW |
3 |
96,199,628 (GRCm39) |
missense |
probably damaging |
1.00 |
R0926:Fcgr1
|
UTSW |
3 |
96,199,682 (GRCm39) |
missense |
possibly damaging |
0.79 |
R1951:Fcgr1
|
UTSW |
3 |
96,194,386 (GRCm39) |
missense |
probably damaging |
1.00 |
R1953:Fcgr1
|
UTSW |
3 |
96,194,386 (GRCm39) |
missense |
probably damaging |
1.00 |
R1993:Fcgr1
|
UTSW |
3 |
96,193,184 (GRCm39) |
missense |
probably damaging |
0.98 |
R2255:Fcgr1
|
UTSW |
3 |
96,193,233 (GRCm39) |
missense |
possibly damaging |
0.88 |
R3941:Fcgr1
|
UTSW |
3 |
96,193,349 (GRCm39) |
missense |
probably benign |
0.13 |
R4004:Fcgr1
|
UTSW |
3 |
96,191,668 (GRCm39) |
missense |
probably benign |
0.00 |
R4409:Fcgr1
|
UTSW |
3 |
96,191,893 (GRCm39) |
missense |
probably benign |
0.41 |
R5046:Fcgr1
|
UTSW |
3 |
96,194,302 (GRCm39) |
missense |
probably damaging |
0.99 |
R5047:Fcgr1
|
UTSW |
3 |
96,193,200 (GRCm39) |
missense |
probably benign |
0.38 |
R6970:Fcgr1
|
UTSW |
3 |
96,191,936 (GRCm39) |
critical splice acceptor site |
probably null |
|
R7339:Fcgr1
|
UTSW |
3 |
96,191,615 (GRCm39) |
missense |
not run |
|
R7992:Fcgr1
|
UTSW |
3 |
96,191,897 (GRCm39) |
missense |
probably benign |
0.23 |
R8554:Fcgr1
|
UTSW |
3 |
96,199,788 (GRCm39) |
missense |
probably damaging |
1.00 |
R9269:Fcgr1
|
UTSW |
3 |
96,193,154 (GRCm39) |
missense |
probably benign |
0.01 |
R9396:Fcgr1
|
UTSW |
3 |
96,194,390 (GRCm39) |
nonsense |
probably null |
|
V7581:Fcgr1
|
UTSW |
3 |
96,191,592 (GRCm39) |
makesense |
probably null |
|
V7583:Fcgr1
|
UTSW |
3 |
96,191,592 (GRCm39) |
makesense |
probably null |
|
X0028:Fcgr1
|
UTSW |
3 |
96,193,343 (GRCm39) |
missense |
probably benign |
0.29 |
|
Predicted Primers |
PCR Primer
(F):5'- TTCCGATGCTCTCAGGATGACCAC -3'
(R):5'- CTTTCAGCAAGTTAGAAGCGATGGC -3'
Sequencing Primer
(F):5'- TCTCAGACTGGAGTCTTCCAGAG -3'
(R):5'- CGTGTATGAAGAAGTAACAGCCAC -3'
|
Posted On |
2014-01-29 |